Analysis of the Results of Deafness Gene Screening in 301 Severe and Very Severe Non-syndrome Deafness Children
10.11969/j.issn.1673-548X.2024.01.031
- VernacularTitle:301例重度及极重度非综合征型耳聋患儿耳聋基因结果分析
- Author:
Xiaojuan HOU
1
;
Li YANG
;
Wei DING
Author Information
1. 830001 乌鲁木齐,新疆维吾尔自治区人民医院耳鼻喉诊疗中心
- Keywords:
Non-syndrome deafness;
Severe and very severe;
Deafness gene;
Mutation
- From:
Journal of Medical Research
2024;53(1):157-161
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the results of the deafness gene in 301 children with severe and very severe non-syndrome deafness in Xinjiang,to provide a reference for rehabilitation and genetic counseling after cochlear implantation.Methods A total of 301 patients with severe and very severe non-syndrome deafness who were admitted to the People's Hospital of Xinjiang Uygur Autonomous Region from 2017 to 2019 were collected.After informed consent,the patients were screened for deafness genes,including 25 loci in GJB2,SLC26A4,mt12SrRNA,OTOF,and SLC17A8 genes(c.35delG,c.167delT,c.176_191del16,c.235delC,c.299_300delAT,c.281C＞T,c.589G＞A,c.IVS7-2A＞G,c.1174A＞T,c.1226G＞A,c.1229C＞T,c.IVS15+5G＞A,c.1975G＞C,c.2027T＞A,c.2162C＞T,c.2168A＞G,c.1494C＞T,c.1555A＞G,c.1585A＞G,c.1047A＞G,c.1095T＞C,c.960_961 insC/961delT,c.4023G＞A,c.4819C＞T,c.824C＞A),and the detection results were analyzed.Results Among 301 cases of severe and very severe non-syndrome deaf-ness,80 cases of positive mutation were screened,and the total detection rate was 26.58％(80/301).The mutation rates of GJB2,SLC26A4,and mt12SrRNA genes were 10.96％(37/301),12.62％(38/301),and 4.32％(13/301),respectively.The main forms of GJB2 mutations were c.235delC and c.35delG,accounting for 37.50％(30/80)and 8.75％(7/80)of the mutations,respectively.The main forms of SLC26A4 mutations were c.IVS7-2A and c.1174 A＞T,accounting for 26.25％(21/80)and 11.25％(9/80)of the mutations,respectively.The main mutation forms of mt12SrRNA were c.960_961 insC/961delT and c.1555A＞G,accounting for 7.50％(6/80)and 5.00％(4/80)of the mutations,respectively.The c.4023G＞A and c.4819C＞T mutations in OTOF and c.824C＞A mutations in SLC17A8 were not detected.The total detection rate of mutation sites in the Han nationality was significantly higher than that in the Uygur nationality(x2=19.064,P＜0.001).Conclusion GJB2 and SLC26A4 are common pathogenic genes in children with severe and very severe non-syndrome deafness in Xinjiang.There may be other hot spot mutation sites in the Uygur nationality.
